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Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities.
Weterman MAJ, Kuo M, Kenter SB, Gordillo S, Karjosukarso DW, Takase R, Bronk M, Oprescu S, van Ruissen F, Witteveen RJW, Bienfait HME, Breuning M, Verhamme C, Hou YM, de Visser M, Antonellis A, Baas F. Weterman MAJ, et al. Among authors: karjosukarso dw. Hum Mol Genet. 2018 Dec 1;27(23):4036-4050. doi: 10.1093/hmg/ddy290. Hum Mol Genet. 2018. PMID: 30124830 Free PMC article.
Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt Disease.
Suárez-Herrera N, Li CHZ, Leijsten N, Karjosukarso DW, Corradi Z, Bukkems F, Duijkers L, Cremers FPM, Hoyng CB, Garanto A, Collin RWJ. Suárez-Herrera N, et al. Among authors: karjosukarso dw. Cells. 2024 Mar 29;13(7):601. doi: 10.3390/cells13070601. Cells. 2024. PMID: 38607040 Free PMC article.